APOPTOSIS AND MITOCHONDRIAL ENCEPHALOMYOPATHIES: EXPLORING PATHOGENIC MECHANISMS

Pubblicazioni Scientifiche

• AMERICAN JOURNAL OF MEDICAL GENETICS

  Single-fiber PCR in MELAS3243 patients:: Correlations between intratissue distribution and phenotypic expression of the mtDNAA3243G genotype

• BRAIN

  Apoptosis in mitochondrial encephalomyopathies with mitochondrial DNA mutations: a potential pathogenic mechanism

• MOLECULAR AND CELLULAR NEUROSCIENCE

  Apoptosis and ROS detoxification enzymes correlate with cytochrome c oxidase deficiency in mitochondrial encephalomyopathies

• NEUROLOGY

  A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency

• NEUROLOGY

  Apoptotic features accompany acute quadriplegic myopathy

• NEUROLOGY

  Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency